Canonical Allele Identifier: CA432423155
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs2125130490
MyVariant Identifiers: chr3:g.10191490A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149806A>C , CM000665.2:g.10149806A>C GRCh38
NC_000003.11:g.10191490A>C , CM000665.1:g.10191490A>C GRCh37
NC_000003.10:g.10166490A>C NCBI36
NG_008212.3:g.13172A>C , LRG_322:g.13172A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*160A>C ENSP00000512434.1:n.*160A>C
ENST00000696143.1:c.619A>C ENSP00000512435.1:n.619A>C
ENST00000696153.1:c.594A>C ENSP00000512444.1:p.Arg198=
ENST00000256474.3:c.483A>C MANE Select ENSP00000256474.3:p.Arg161=
ENST00000256474.2:c.483A>C ENSP00000256474.2:p.Arg161=
ENST00000345392.2:c.360A>C ENSP00000344757.2:p.Arg120=
ENST00000477538.1:n.619A>C
NM_000551.3:c.483A>C , LRG_322t1:c.483A>C NP_000542.1:p.Arg161=
NM_198156.2:c.360A>C NP_937799.1:p.Arg120=
NM_001354723.1:c.*37A>C NP_001341652.1:n.*37A>C
NM_000551.4:c.483A>C MANE Select NP_000542.1:p.Arg161=
NM_001354723.2:c.*37A>C NP_001341652.1:n.*37A>C
NM_198156.3:c.360A>C NP_937799.1:p.Arg120=